Canonical Allele Identifier: CA344575045

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790503A>G , CM000663.2:g.209790503A>G	GRCh38
NC_000001.10:g.209963848A>G , CM000663.1:g.209963848A>G	GRCh37
NC_000001.9:g.208030471A>G	NCBI36
NG_007081.2:g.20632T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.1052T>C MANE Select	NP_006138.1:p.Phe351Ser
ENST00000367021.8:c.1052T>C MANE Select	ENSP00000355988.3:p.Phe351Ser
NM_001206696.1:c.767T>C	NP_001193625.1:p.Phe256Ser
NM_001206696.2:c.767T>C	NP_001193625.1:p.Phe256Ser
NM_006147.3:c.1052T>C	NP_006138.1:p.Phe351Ser
ENST00000367021.7:c.1052T>C	ENSP00000355988.3:p.Phe351Ser
ENST00000542854.5:c.767T>C	ENSP00000440532.1:p.Phe256Ser
ENST00000643798.1:c.*562T>C	ENSP00000496669.1:n.*562T>C
ENST00000696133.1:c.1052T>C	ENSP00000512426.1:p.Phe351Ser
ENST00000696134.1:c.*479T>C	ENSP00000512427.1:n.*479T>C